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Neurology (Expert Forum)
What are the odds of three children having three different types of MD?
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What are the odds of three children having three different types of MD?
by curious MD, Feb 20, 2003 12:00AM
My father-in-law has Fascioscapulohumoral muscular dystrophy. His older sister has Myototic muscular dystrophy while his younger sister has Limb-Girdle muscular dystrophy. I was just curious if this is even possible? Their parents have been physically tested and were said to have no sign of muscular dystrophy. The youngest daughter has the most severe case while the oldest has the least, my father-in-law is right in the middle.
How is it possible to have three offspring with three different types of Muscular Dystrophy? How was it passed on to the children? How likely that is it that my wife has FSC MD? My wife has been physically tested and the specialist said that she did not have MD based on her physical aptitude. Is it possible to tell if someone has MD based on their present physical abilities?
Could all three cases be spontaneous? If so, is it likely to pass this disease on to their children? I am really just trying to find out where this disease came from.
I thank you for any answers you can provide.
Sincerely,
curious MD
How is it possible to have three offspring with three different types of Muscular Dystrophy? How was it passed on to the children? How likely that is it that my wife has FSC MD? My wife has been physically tested and the specialist said that she did not have MD based on her physical aptitude. Is it possible to tell if someone has MD based on their present physical abilities?
Could all three cases be spontaneous? If so, is it likely to pass this disease on to their children? I am really just trying to find out where this disease came from.
I thank you for any answers you can provide.
Sincerely,
curious MD
Doctor's Answer
by CCF-Neuro-M.D.-JT, Feb 24, 2003 12:00AM
Please forgive me if I over-explain and you're a physician as I'm not sure if curious MD stands for medical doctor or muscular dystrophy.
It would be very, very unlikely (if not impossible) that there would be 3 different kinds of dystrophies in one family. In fact, I don't even think that anyone would ever believe it even if it was true. The problem is that the diagnoses were probably made on clinical grounds alone which just isn't that reliable given the advanced testing that's available today. For more definitive testing, genetics testing will need to be done on one of the family members, if not all affected for confirmation. As for the statement about not having any dystrophy due to the fact that "physical aptitude is normal", that isn't true. We have seen a number of patients who feel fine and function normally but turn out to have subtle weakness on exam and some kind of limb-girdle dystrophy on genetics testing. Some may even be completely normal with positive genetics testing. My guess is that this family probably has some kind of limb-girdle dystrophy (the same one) that is likely autosomal dominantly inherited (meaning that one of the parents had a dominant allele that has 50% chance of being passed on to each child) with incomplete expression in that parent. But that's just a guess. As for your wife, hard to say as we're not sure what this is yet. But if it does turn out ot be autosomal dominant inheritance, she has a 50% chance of having the disease and so will each child that you have. If she doesn't have it, then your kids wil be scott free, too, assuming you don't have the disease. Good luck.
It would be very, very unlikely (if not impossible) that there would be 3 different kinds of dystrophies in one family. In fact, I don't even think that anyone would ever believe it even if it was true. The problem is that the diagnoses were probably made on clinical grounds alone which just isn't that reliable given the advanced testing that's available today. For more definitive testing, genetics testing will need to be done on one of the family members, if not all affected for confirmation. As for the statement about not having any dystrophy due to the fact that "physical aptitude is normal", that isn't true. We have seen a number of patients who feel fine and function normally but turn out to have subtle weakness on exam and some kind of limb-girdle dystrophy on genetics testing. Some may even be completely normal with positive genetics testing. My guess is that this family probably has some kind of limb-girdle dystrophy (the same one) that is likely autosomal dominantly inherited (meaning that one of the parents had a dominant allele that has 50% chance of being passed on to each child) with incomplete expression in that parent. But that's just a guess. As for your wife, hard to say as we're not sure what this is yet. But if it does turn out ot be autosomal dominant inheritance, she has a 50% chance of having the disease and so will each child that you have. If she doesn't have it, then your kids wil be scott free, too, assuming you don't have the disease. Good luck.
